Scoliosis in the Rett syndrome.

Area of Science:

• Pediatric Orthopedics
• Neurology
• Genetics

Background:

• Rett syndrome (RS) is a neurodevelopmental disorder with significant physical manifestations.
• Scoliosis is a common complication in individuals with Rett syndrome, impacting spinal health.
• Understanding the prevalence and progression of scoliosis in RS is vital for patient management.

Purpose of the Study:

• To investigate the prevalence and characteristics of scoliosis in a cohort of patients with classical Rett syndrome.
• To analyze the progression patterns, age of onset, and treatment outcomes for scoliosis in this population.
• To provide insights for orthopedic management and early detection strategies for scoliosis in Rett syndrome.

Main Methods:

• Retrospective review of spinal radiographs from 30 patients with classical Rett syndrome.
• Analysis of scoliosis diagnosis age, curve severity (degrees), progression, and treatment interventions (bracing, surgery).
• Correlation of clinical findings with patient age and disease progression.

Main Results:

• Scoliosis was present in 83% (25/30) of patients, with curve severity ranging from 10 to 86 degrees.
• The age at first diagnosis varied from 4.3 to 18 years, with a mean curve measurement of 14.9 years.
• Progression was observed in 38% (8/21) of curves, necessitating bracing in five and surgery in three patients.

Conclusions:

• Scoliosis is highly prevalent in classical Rett syndrome and exhibits unpredictable progression.
• Timely orthopedic referral is essential upon the first signs of scoliosis in RS patients.
• Orthopedic surgeons must be cognizant of the unique challenges in managing scoliosis associated with Rett syndrome.